Annotation of VCF variants with functional impact and from databases (executable+library)
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Updated
Aug 19, 2024 - Java
Annotation of VCF variants with functional impact and from databases (executable+library)
Call and score variants from WGS/WES of rare disease patients.
A modular annotation tool for genomic variants
A python parser to simplify and build the VCF (Variant Call Format).
Automated statistical and functional fine-mapping pipeline with extensive API access to datasets.
Clinical Whole Genome and Exome Sequencing Pipeline
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
💻 Command line interface for Genome Nexus 🧬
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
Library for indexing VCF files for random access searches by rsID
2019 Genomics Epidemiology Workshop at Academia Sinica
Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)
Add functional variant annotation to MAF file
COVID-19 Variants Repository
Pipeline for variant annotation using Variant Effect Predictor (VEP)
Neighborhood-Aware Variant Impact Predictor
A tool for analysis of genomic variants in human genomes.
Variant Calling and Annotation using PacBio Hi-Fi Reads
Human mitochondrial variants annotation using HmtVar.
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